BioProject
Whole exome sequencing reveals rare variants linked to congenital pouch colon
Importance: Anorectal malformations (ARM) are individually common but Congenital Pouch Colon (CPC), a rare anorectal anomaly causes a dilated pouch in the genitourinary tract.Objective: In this work, we attempted to identify de novo heterozygous missense …
- PRJNA793375